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Multi-omics Characterization of Epigenetic and Genetic Risk of Alzheimer Disease in Autopsied Brains from two Ethnic Groups.
Ma Y, Reyes-Dumeyer D, Piriz A, Recio P, Mejia DR, Medrano M, Lantigua RA, Vonsattel JPG, Tosto G, Teich AF, Ciener B, Leskinen S, Sivakumar S, DeTure M, Ranjan D, Dickson D, Murray M, Lee E, Wolk DA, Jin LW, Dugger BN, Hiniker A, Rissman RA, Mayeux R, Vardarajan BN. Ma Y, et al. Among authors: vardarajan bn. medRxiv [Preprint]. 2024 Feb 14:2024.02.12.24302533. doi: 10.1101/2024.02.12.24302533. medRxiv. 2024. PMID: 38405911 Free PMC article. Preprint.
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.
Hartl D, May P, Gu W, Mayhaus M, Pichler S, Spaniol C, Glaab E, Bobbili DR, Antony P, Koegelsberger S, Kurz A, Grimmer T, Morgan K, Vardarajan BN, Reitz C, Hardy J, Bras J, Guerreiro R, Balling R, Schneider JG, Riemenschneider M; AESG. Hartl D, et al. Among authors: vardarajan bn. Mol Psychiatry. 2020 Mar;25(3):629-639. doi: 10.1038/s41380-018-0091-8. Epub 2018 Jul 9. Mol Psychiatry. 2020. PMID: 29988083 Free PMC article.
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA Jr, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. Homsy J, et al. Science. 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396. Science. 2015. PMID: 26785492 Free PMC article.
Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beiser A, Bernard M, Bis JC, Blanken LM, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chauhan G, Chen Q, Ching CR, Cuellar-Partida G, Braber AD, Doan NT, Ehrlich S, Filippi I, Ge T, Giddaluru S, Goldman AL, Gottesman RF, Greven CU, Grimm O, Griswold ME, Guadalupe T, Hass J, Haukvik UK, Hilal S, Hofer E, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liao J, Liewald DC, Lopez LM, Luciano M, Macare C, Marquand A, Matarin M, Mather KA, Mattheisen M, Mazoyer B, McKay DR, McWhirter R, Milaneschi Y, Mirza-Schreiber N, Muetzel RL, Maniega SM, Nho K, Nugent AC, Loohuis LM, Oosterlaan J, Papmeyer M, Pappa I, Pirpamer L, Pudas S, Pütz B, Rajan KB, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Rose EJ, Royle NA, Rundek T, Sämann PG, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumska… See abstract for full author list ➔ Adams HH, et al. Among authors: vardarajan bn. Nat Neurosci. 2016 Dec;19(12):1569-1582. doi: 10.1038/nn.4398. Epub 2016 Oct 3. Nat Neurosci. 2016. PMID: 27694991 Free PMC article.
BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.
Sedgewick AE, Timofeev N, Sebastiani P, So JCC, Ma ESK, Chan LC, Fucharoen G, Fucharoen S, Barbosa CG, Vardarajan BN, Farrer LA, Baldwin CT, Steinberg MH, Chui DHK. Sedgewick AE, et al. Among authors: vardarajan bn. Blood Cells Mol Dis. 2008 Nov-Dec;41(3):255-258. doi: 10.1016/j.bcmd.2008.06.007. Epub 2008 Aug 8. Blood Cells Mol Dis. 2008. PMID: 18691915 Free PMC article.
Stem cell-derived neurons reflect features of protein networks, neuropathology, and cognitive outcome of their aged human donors.
Lagomarsino VN, Pearse RV 2nd, Liu L, Hsieh YC, Fernandez MA, Vinton EA, Paull D, Felsky D, Tasaki S, Gaiteri C, Vardarajan B, Lee H, Muratore CR, Benoit CR, Chou V, Fancher SB, He A, Merchant JP, Duong DM, Martinez H, Zhou M, Bah F, Vicent MA, Stricker JMS, Xu J, Dammer EB, Levey AI, Chibnik LB, Menon V, Seyfried NT, De Jager PL, Noggle S, Selkoe DJ, Bennett DA, Young-Pearse TL. Lagomarsino VN, et al. Neuron. 2021 Nov 3;109(21):3402-3420.e9. doi: 10.1016/j.neuron.2021.08.003. Epub 2021 Sep 1. Neuron. 2021. PMID: 34473944 Free PMC article.
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK. Glessner JT, et al. Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9. Circ Res. 2014. PMID: 25205790 Free PMC article. Clinical Trial.
128 results